Definition

Osteogenesis imperfecta (OI) is a group of disorders caused by defects in the production of Type I collagen, characterized by easily fractured bones; COL1A1/COL1A2 testing detects most dominant forms of OI, but in 5-10% of patients the cause lies in other genes. Comprehensive OI panels screen up to 25 genes, including COL1A1 and COL1A2 along with BMP1, CRTAP, and FKBP10.

Gene/region examined

COL1A1, COL1A2, IFITM5, P3H1, CRTAP, PPIB, SERPINH1, FKBP10, PLOD2, TMEM38B, PLS3, BMP1, SERPINF1, SP7, ALPL, CREB3L1, WNT1, LRP5

Method

Next-Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Description

18 gene regions associated with Osteogenesis Imperfecta are analyzed.

Inheritance

Germline/hereditary, mostly autosomal dominant (COL1A1/COL1A2), with a portion showing an autosomal recessive inheritance pattern, a structural collagen disease.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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